As the Lindsay Tribunal draws to a close, the treatment dilemmas associated with haemophilia have been well and truly debated. But whatever about past difficulties, the future of haemophilia treatment in the Republic was emphasised at the opening last week of the National Centre for Hereditary Coagulation Disorders at St James's Hospital, Dublin.
Haemophilia, a genetic disorder linked to the X chromosome, affects one in 5,000-10,000 males. It is a clotting (coagulation) disorder, which means that the person with haemophilia experiences excessive bleeding into the skin, joints, soft tissue and into major organs. Haemorrhage into joints is particularly common and results in the premature development of "wear and tear" arthritis. In the past, clotting factor replacements were administered intravenously as soon as possible after bleeding began.
According to Dr Owen Smith, consultant haemotologist and the director of the new centre, "all children with severe haemophilia A and B registered at the National Haemophilia Centre are now offered prophylaxis with recombinant factor concentrate". This means that rather than waiting for a bleeding problem to arise, replacement clotting factor is given prophylactically.
Primary prophylaxis has been the principal goal of haemophilia treatment over the past three decades. Swedish researchers have published the results of a study in which preventative treatment was started in boys with haemophilia when they were between one and two years of age. A group of these boys who started early treatment were assessed between four to 12 years of age and showed no episodes of joint bleeding. Joint function was also shown to be excellent.
All children with severe haemophilia - those with a clotting factor of less than 1 per cent - are now offered prophylaxis with a concentrated blood factor. A study by Dr Smith and his colleagues of 40 children treated in this way has shown a dramatic fall in the average number of bleeds per patient. Before a preventative approach was introduced, 38 bleeds a year was the norm; now the average number of episodes per child has fallen to 3.5.
According to Dr Smith, "our data and indeed data from a number of other groups in western Europe show the benefits of this type of treatment in terms of health and social integration". He acknowledges that the cost of a preventive approach is high, but says in the long term the children will have a dramatically reduced need for orthopaedic and rehabilitation treatments when they reach adulthood.
A separate blood disorder is becoming increasingly prevalent in the Republic. With high levels of immigration, haematology specialists are now seeing a significant increase in the number of cases of sickle cell disease (SCD). It is found in people of African, Afro-Caribbean, Indian and Mediterranean descent. SCD is caused by a genetic mutation which results in faulty haemoglobin in the blood. Haemoglobin is the substance in red cells which helps carry oxygen around the body.
In SCD, the faulty haemoglobin causes red blood cells to take on a sickle shape rather than the usual round, doughnut appearance. Because of their abnormal shape, the cells become trapped in, and are destroyed by, the liver and spleen. This leads to anaemia. The defective blood cells can also pile up and block blood vessels. This cuts off the blood supply to nearby tissues, which then begin to swell, causing pain. Episodes of pain are referred to as a "sickle cell crisis".
Most countries with a resident SCD population have developed long-term management strategies. This is not the case in the Republic, and again Dr Smith and his colleagues are concerned that this deficit be addressed. According to research about to be published in the Irish Journal of Medical Science, 92 patients with a sickle cell disease presented to the National Children's Hospital from January, 1999, to April, 2001; 32 sickle cell crises were treated during the 27-month study period.
The Department of Health has been advised that this "new" childhood blood disorder is a major healthcare issue. According to Dr Smith, long-term management strategies need to be put in place now. "Sickle cell disease requires a comprehensive care approach similar to that required for paediatric haemophilia in order to ensure optimum care," he says.